A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3059094



Internal ID21190844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:90702017..90702017hg38UCSC Ensembl
chr5:89997834..89997834hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38159
hg19159
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14029085
SamplesCHM1
Known GenesGPR98
MethodSequencing
AnalysisCombines the NGS (e.g., Illumina) and SMS (e.g., Pacbio) for detecting large and small SVs (parameters the same as commit eee31f6 of https://bitbucket.org/xianfan/hybridassemblysv)
Platform
Comments
ReferenceFan_et_al_2017
Pubmed ID28104618
Accession Number(s)nsv3059094
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer